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Telomere shortening and telomere position effect in mild ring 17 syndrome

BACKGROUND: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic featur...

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Autores principales: Surace, Cecilia, Berardinelli, Francesco, Masotti, Andrea, Roberti, Maria Cristina, Da Sacco, Letizia, D’Elia, Gemma, Sirleto, Pietro, Digilio, Maria Cristina, Cusmai, Raffaella, Grotta, Simona, Petrocchi, Stefano, Hachem, May El, Pisaneschi, Elisa, Ciocca, Laura, Russo, Serena, Lepri, Francesca Romana, Sgura, Antonella, Angioni, Adriano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892072/
https://www.ncbi.nlm.nih.gov/pubmed/24393457
http://dx.doi.org/10.1186/1756-8935-7-1
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author Surace, Cecilia
Berardinelli, Francesco
Masotti, Andrea
Roberti, Maria Cristina
Da Sacco, Letizia
D’Elia, Gemma
Sirleto, Pietro
Digilio, Maria Cristina
Cusmai, Raffaella
Grotta, Simona
Petrocchi, Stefano
Hachem, May El
Pisaneschi, Elisa
Ciocca, Laura
Russo, Serena
Lepri, Francesca Romana
Sgura, Antonella
Angioni, Adriano
author_facet Surace, Cecilia
Berardinelli, Francesco
Masotti, Andrea
Roberti, Maria Cristina
Da Sacco, Letizia
D’Elia, Gemma
Sirleto, Pietro
Digilio, Maria Cristina
Cusmai, Raffaella
Grotta, Simona
Petrocchi, Stefano
Hachem, May El
Pisaneschi, Elisa
Ciocca, Laura
Russo, Serena
Lepri, Francesca Romana
Sgura, Antonella
Angioni, Adriano
author_sort Surace, Cecilia
collection PubMed
description BACKGROUND: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic features have been observed in cases with complete or partial loss of the telomeric repeats and conservation of the euchromatic regions. We studied two different cases of ring 17 syndrome, firstly, to clarify, by analyzing gene expression analysis using real-time qPCR, the role of the telomere absence in relationship with the clinical symptoms, and secondly, to look for a new model of the mechanism of ring chromosome transmission in a rare case of familial mosaicism, through cytomolecular and quantitative fluorescence in-situ hybridization (Q-FISH) investigations. RESULTS: The results for the first case showed that the expression levels of genes selected, which were located close to the p and q ends of chromosome 17, were significantly downregulated in comparison with controls. Moreover, for the second case, we demonstrated that the telomeres were conserved, but were significantly shorter than those of age-matched controls; data from segregation analysis showed that the ring chromosome was transmitted only to the affected subjects of the family. CONCLUSIONS: Subtelomeric gene regulation is responsible for the phenotypic aspects of ring 17 syndrome; telomere shortening influences the phenotypic spectrum of this disease and strongly contributes to the familial transmission of the mosaic ring. Together, these results provide new insights into the genotype-phenotype relationships in mild ring 17 syndrome.
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spelling pubmed-38920722014-01-15 Telomere shortening and telomere position effect in mild ring 17 syndrome Surace, Cecilia Berardinelli, Francesco Masotti, Andrea Roberti, Maria Cristina Da Sacco, Letizia D’Elia, Gemma Sirleto, Pietro Digilio, Maria Cristina Cusmai, Raffaella Grotta, Simona Petrocchi, Stefano Hachem, May El Pisaneschi, Elisa Ciocca, Laura Russo, Serena Lepri, Francesca Romana Sgura, Antonella Angioni, Adriano Epigenetics Chromatin Research BACKGROUND: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of the syndrome. Moreover, similar phenotypic features have been observed in cases with complete or partial loss of the telomeric repeats and conservation of the euchromatic regions. We studied two different cases of ring 17 syndrome, firstly, to clarify, by analyzing gene expression analysis using real-time qPCR, the role of the telomere absence in relationship with the clinical symptoms, and secondly, to look for a new model of the mechanism of ring chromosome transmission in a rare case of familial mosaicism, through cytomolecular and quantitative fluorescence in-situ hybridization (Q-FISH) investigations. RESULTS: The results for the first case showed that the expression levels of genes selected, which were located close to the p and q ends of chromosome 17, were significantly downregulated in comparison with controls. Moreover, for the second case, we demonstrated that the telomeres were conserved, but were significantly shorter than those of age-matched controls; data from segregation analysis showed that the ring chromosome was transmitted only to the affected subjects of the family. CONCLUSIONS: Subtelomeric gene regulation is responsible for the phenotypic aspects of ring 17 syndrome; telomere shortening influences the phenotypic spectrum of this disease and strongly contributes to the familial transmission of the mosaic ring. Together, these results provide new insights into the genotype-phenotype relationships in mild ring 17 syndrome. BioMed Central 2014-01-07 /pmc/articles/PMC3892072/ /pubmed/24393457 http://dx.doi.org/10.1186/1756-8935-7-1 Text en Copyright © 2014 Surace et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Surace, Cecilia
Berardinelli, Francesco
Masotti, Andrea
Roberti, Maria Cristina
Da Sacco, Letizia
D’Elia, Gemma
Sirleto, Pietro
Digilio, Maria Cristina
Cusmai, Raffaella
Grotta, Simona
Petrocchi, Stefano
Hachem, May El
Pisaneschi, Elisa
Ciocca, Laura
Russo, Serena
Lepri, Francesca Romana
Sgura, Antonella
Angioni, Adriano
Telomere shortening and telomere position effect in mild ring 17 syndrome
title Telomere shortening and telomere position effect in mild ring 17 syndrome
title_full Telomere shortening and telomere position effect in mild ring 17 syndrome
title_fullStr Telomere shortening and telomere position effect in mild ring 17 syndrome
title_full_unstemmed Telomere shortening and telomere position effect in mild ring 17 syndrome
title_short Telomere shortening and telomere position effect in mild ring 17 syndrome
title_sort telomere shortening and telomere position effect in mild ring 17 syndrome
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892072/
https://www.ncbi.nlm.nih.gov/pubmed/24393457
http://dx.doi.org/10.1186/1756-8935-7-1
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